(Q24681038)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

progressive myoclonus epilepsy

31 October 2019

main subject

1 reference

4

1 reference

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31 October 2019

author name string

Lalioti MD

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Mirotsou M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Buresi C

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Rossier C

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Ouazzani R

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Baldy-Moulinier M

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Bottani A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Malafosse A

9

1 reference

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31 October 2019

Antonarakis SE

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 February 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

31 October 2019

published in

1 reference

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31 October 2019

volume

60

1 reference

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31 October 2019

issue

2

1 reference

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31 October 2019

page(s)

342-351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Evolution of proteins of the cystatin superfamily

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

The cystatins: Protein inhibitors of cysteine proteinases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Cystatins in health and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Continuum of overlapping clones spanning the entire human chromosome 21q.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712389

Mechanism of inhibition of papain by chicken egg white cystatin. Inhibition constants of N-terminally truncated forms and cyanogen bromide fragments of the inhibitor

30 May 2018

1 reference

12 December 2020

N-terminal variants of recombinant stefin B: effect on affinity for papain and cathepsin B

1 reference

12 December 2020

Identical genetic locus for Baltic and Mediterranean myoclonus

1 reference

12 December 2020

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs

1 reference

12 December 2020

Protease inhibitor implicated

1 reference

12 December 2020

Identification of the probable inhibitory reactive sites of the cysteine proteinase inhibitors human cystatin C and chicken cystatin

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012407%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

9012407

1 reference